Vestibular Schwannoma (VS) also called as Acoustic Neuromas the benign tumors, resulting from the mutations that occur in the NF2 gene on chromosome 22. Mutation in the NF2 gene accounts for inherited autosomal dominant disorders that predispose into non-malignant central nervous system (CNS) disorders like vestibular schwannomas (VS) and meningiomas. VS usually grow slowly with tinnitus, hearing loss and balance dysfunction like symptoms. Management of such a condition becomes crucial as the development of tumors remains a significant reason behind morbidity and mortality of the patient. Awareness and early detection pertaining to the symptoms can restrict the disease manifestations to an extent and this could be achieved by performing a genetic test. In this study, the researchers report a classic case of recurrent headache and strong family history of VS. Germline mutation test by Next Generation Sequencing (NGS) detected a pathogenic (p.Gln538Ter) nonsense mutation in NF2 gene. Post-test counseling was offered and the family members were referred for prediction testing to understand their likelihood of developing the tumors.
